Screening for common β‐globin gene cluster deletions in Chinese individuals with increased hemoglobin F

Abstract

The Chinese ((A) γδβ)(0)-thalassemia and SEA deletion are the most common large deletions of β-globin gene cluster in Chinese. Gap-PCR for the detection of these two deletions should be used in thalassemia screening program in China where the incidence of β-thalassemia is high.

The prevalence and molecular characterization of (δβ)0‐thalassemia and hereditary persistence of fetal hemoglobin in the Chinese Zhuang population

“…Nine (0.06%) subjects had SEA-HPFH deletion in our study. Seven individuals with heterozygotes for SEA-HPFH showed similar features to previously reported, 18,32 and all had normal Hb levels and slightly decreased MCV and MCH levels. While, two patients who were compound heterozygous for SEA-HPFH and β 0 -thal mutation presented as β-thal intermedia phenotypes (Table 2).…”

“…In summary, our study for the first demonstrated (δβ) 0 and HPFH were not rare events in the Chinese Zhuang population. As co‐inheritance of deletional δβ‐thal or HPFH with β‐thal can result in variable clinical phenotypes, a differential diagnosis of these conditions is therefore important for providing appropriate treatment and genetic counseling to these cases . Since the Chinese G γ( A γδβ) 0 ‐thal and SEA‐HPFH deletion are the most common large deletions of β‐globin gene cluster in the Chinese Zhuang population, Gap‐PCR for the detection of these two deletions should be used in thalassemia screening program.…”

“…8 And at least 12 have been described in Southeast Asian population. 16 Over three types of (δβ) 0 -thal or HPFH have been characterized in different regions of China, which include Chinese G γ( A γδβ) 0 -thal, 17,18 Yunnanese ( A γδβ) 0 -thal, 19 Cantoneses ( A γδβ) 0 -thal,…”

Molecular epidemiology and hematologic characterization of δβ-thalassemia and hereditary persistence of fetal hemoglobin in 125,661 families of greater Guangzhou area, the metropolis of southern China

“…All these assays were performed with a thalassemia gene detection kit (Shenzhen Yishengtang Biological Products Co., Ltd.; Shenzhen, China). Gap-PCR was performed for individuals with HbF levels ≥5% to screen two types of β-globin gene cluster deletions, Chinese ( A γδβ) 0 thalassemia and Southeast Asian (SEA) HPFH, using specific primers [18]. When the two common deletions were excluded, multiplex ligation-dependent probe amplification (MLPA) was employed to detect copy number variation in the β-globin gene cluster according to the manufacturer's instructions (MRC Holland, Amsterdam, the Netherlands).…”

A novel 223 kb deletion in the beta‐globin gene cluster was identified in a Chinese thalassemia major patient

“…C, A 300-bp product was amplified by gap-PCR using the primers F and R in I 2 , II 2 , and III 1 but no PCR product was observed for II 1 Chinese are very rare-only 8 were found in a literature search [14][15][16][17][18][19][20][21] ( Figure 3B). Furthermore, the Chinese G γ ( A γδβ) 0 -thal and S.EAsion are the most common large deletion among them 21 and both of them present with high HbF levels. Therefore, these two deletions are likely to attract the attention of clinicians, and some laboratories have carried out Gap-PCR for the detection of these two deletions as a routine screening program for patients with high HbF.…”